A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462307



Internal ID240235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55116904..55121346hg38UCSC Ensembl
chr5:54412732..54417174hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384443
hg194443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965991
Samples
Known GenesCDC20B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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